NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly)
|
rs1360515765
|
0.00001
|
NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr)
|
rs2063114288
|
|
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser)
|
rs2050947096
|
|
NM_001100399.2(PDS5A):c.2153+1G>A
|
rs1720512441
|
|
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala)
|
rs1462714993
|
|
NM_001127644.2(GABRA1):c.1315T>C (p.Trp439Arg)
|
rs1755416622
|
|
NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg)
|
rs1694511803
|
|
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)
|
rs1038557470
|
|
NM_001270.4(CHD1):c.530A>G (p.Glu177Gly)
|
rs1751687577
|
|
NM_001273.5(CHD4):c.4980A>G (p.Lys1660=)
|
rs1948119039
|
|
NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly)
|
rs370055977
|
|
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn)
|
rs1202158646
|
|
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val)
|
rs1057518524
|
|
NM_001376.5(DYNC1H1):c.8574C>G (p.Phe2858Leu)
|
rs778246294
|
|
NM_001376.5(DYNC1H1):c.9229G>C (p.Asp3077His)
|
rs2048466928
|
|
NM_001854.4(COL11A1):c.3304G>A (p.Gly1102Arg)
|
rs1658599034
|
|
NM_001999.4(FBN2):c.3848-1G>A
|
rs1750805468
|
|
NM_002430.3(MN1):c.2986G>C (p.Gly996Arg)
|
rs1933323211
|
|
NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln)
|
rs531979350
|
|
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)
|
rs2051853150
|
|
NM_005157.6(ABL1):c.929C>T (p.Pro310Leu)
|
rs1831276610
|
|
NM_005445.4(SMC3):c.1121A>C (p.Asp374Ala)
|
rs1861074510
|
|
NM_006164.5(NFE2L2):c.1033G>C (p.Gly345Arg)
|
rs747179142
|
|
NM_006236.3(POU3F3):c.1480G>T (p.Gly494Trp)
|
rs1288967379
|
|
NM_006445.4(PRPF8):c.6791C>T (p.Ser2264Leu)
|
rs1911033774
|
|
NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser)
|
rs539376929
|
|
NM_006885.4(ZFHX3):c.320C>A (p.Pro107His)
|
rs145239736
|
|
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser)
|
rs1685074140
|
|
NM_007118.4(TRIO):c.3166G>T (p.Val1056Leu)
|
rs755777586
|
|
NM_015215.4(CAMTA1):c.122A>G (p.His41Arg)
|
rs1646960047
|
|
NM_015215.4(CAMTA1):c.4355G>T (p.Ser1452Ile)
|
rs2096846819
|
|
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met)
|
rs1357621164
|
|
NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe)
|
rs1317227596
|
|
NM_018896.5(CACNA1G):c.6086C>T (p.Pro2029Leu)
|
rs2052945610
|
|
NM_020066.5(FMN2):c.3825G>T (p.Gly1275=)
|
rs901699283
|
|
NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg)
|
rs1831337271
|
|
NM_020928.2(ZSWIM6):c.2569G>A (p.Glu857Lys)
|
rs1749677033
|
|
NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly)
|
rs775055611
|
|
NM_022893.4(BCL11A):c.431A>G (p.His144Arg)
|
rs1449675152
|
|
NM_030632.3(ASXL3):c.3230C>G (p.Ala1077Gly)
|
rs2067692361
|
|
NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe)
|
rs1770051610
|
|
NM_031407.7(HUWE1):c.4183T>C (p.Ser1395Pro)
|
rs2064095549
|
|
NM_031407.7(HUWE1):c.572A>G (p.Tyr191Cys)
|
rs2066941837
|
|
NM_032538.3(TTBK1):c.735+1G>T
|
rs1777362229
|
|
NM_130797.4(DPP6):c.1547+4A>G
|
rs892160951
|
|
NM_152641.4(ARID2):c.1630G>C (p.Glu544Gln)
|
rs1943489555
|
|
NM_182641.4(BPTF):c.3474C>A (p.Asn1158Lys)
|
rs2062639532
|
|
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)
|
rs2079430530
|
|